UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy
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The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymesUbiad1 is an antioxidant enzyme that regulates eNOS activity by CoQ10 synthesisStructural Insights into Ubiquinone Biosynthesis in MembranesStructure of a membrane-embedded prenyltransferase homologous to UBIAD1Functional characterization of the vitamin K2 biosynthetic enzyme UBIAD1UBIAD1-mediated vitamin K2 synthesis is required for vascular endothelial cell survival and development.Vitamin K2 biosynthetic enzyme, UBIAD1 is essential for embryonic development of miceThe bladder tumor suppressor protein TERE1 (UBIAD1) modulates cell cholesterol: implications for tumor progression.A novel Golgi retention signal RPWS for tumor suppressor UBIAD1.Genetic background and climatic droplet keratopathy incidence in a Mapuche population from Argentina.The prenyltransferase UBIAD1 is the target of geranylgeraniol in degradation of HMG CoA reductaseA mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophyRole of UBIAD1 in Intracellular Cholesterol Metabolism and Vascular Cell Calcification.Structure-activity relationship study of vitamin k derivatives yields highly potent neuroprotective agentsBringing Bioactive Compounds into Membranes: The UbiA Superfamily of Intramembrane Aromatic Prenyltransferases.Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy.The tumor suppressor TERE1 (UBIAD1) prenyltransferase regulates the elevated cholesterol phenotype in castration resistant prostate cancer by controlling a program of ligand dependent SXR target genes.The TERE1 protein interacts with mitochondrial TBL2: regulation of trans-membrane potential, ROS/RNS and SXR target genes.Schnyder Corneal Dystrophy in a Saudi Arabian Family with Heterozygous UBIAD1 Mutation (p.L121F).Mitochondrial damage and cholesterol storage in human hepatocellular carcinoma cells with silencing of UBIAD1 gene expression.Vitamin K2 is a mitochondrial electron carrier that rescues pink1 deficiency.Phenotypic spectrum of POLG1 mutations.Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 geneClinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants
P2860
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P2860
UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy
description
2010 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մայիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2010
@ast
scientific article (publication date: 21 May 2010)
@en
vedecký článok (publikovaný 2010/05/21)
@sk
vědecký článek publikovaný v roce 2010
@cs
wetenschappelijk artikel (gepubliceerd op 2010/05/21)
@nl
wissenschaftlicher Artikel
@de
наукова стаття, опублікована в травні 2010
@uk
مقالة علمية (نشرت في 21-5-2010)
@ar
name
UBIAD1 mutation alters a mitoc ...... use Schnyder corneal dystrophy
@ast
UBIAD1 mutation alters a mitoc ...... use Schnyder corneal dystrophy
@en
UBIAD1 mutation alters a mitoc ...... use Schnyder corneal dystrophy
@nl
type
label
UBIAD1 mutation alters a mitoc ...... use Schnyder corneal dystrophy
@ast
UBIAD1 mutation alters a mitoc ...... use Schnyder corneal dystrophy
@en
UBIAD1 mutation alters a mitoc ...... use Schnyder corneal dystrophy
@nl
prefLabel
UBIAD1 mutation alters a mitoc ...... use Schnyder corneal dystrophy
@ast
UBIAD1 mutation alters a mitoc ...... use Schnyder corneal dystrophy
@en
UBIAD1 mutation alters a mitoc ...... use Schnyder corneal dystrophy
@nl
P2093
P2860
P50
P3181
P1433
P1476
UBIAD1 mutation alters a mitoc ...... use Schnyder corneal dystrophy
@en
P2093
Brittany N Kostiha
Chris Croasdale
Fu-Shin Yu
Howard S Kruth
James Chodosh
Jayne S Weiss
John Sutphin
Ke-Ping Xu
P2860
P304
P3181
P356
10.1371/JOURNAL.PONE.0010760
P407
P577
2010-05-21T00:00:00Z